Table of Contents

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of ARID5B mutations in DLBCL requires confirmation
PMBL 1 High-confidence PMBL gene

Warnings

In a subsequent reanalysis, the mutation rate in this gene was found to be inflated in the original results

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 3.25
DLBCL Schmitz cohort 4.30
DLBCL Reddy cohort 4.30
DLBCL Chapuy cohort 2.60

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.5930 0.0000 1.0000
FL 0.4783 0.9343 1.0000
DLBCL 0.0000 0.0000 0.9986

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

Representative Mutations

Rating ★ ★ ★ ★ ☆

Rating ★ ★ ★ ★ ☆

All Mutations

Reddy_2057T Reddy_2073T Reddy_2213T Reddy_2215T Reddy_2216T Reddy_2241T Reddy_2270T Reddy_2278T Reddy_2478T Reddy_2481T Reddy_2540T Reddy_2562T Reddy_2611T Reddy_2677T Reddy_2688T Reddy_2764T Reddy_2785T Reddy_2788T Reddy_2831T Reddy_2865T Reddy_2897T Reddy_2905T Reddy_2921T Reddy_2944T Reddy_2948T Reddy_2950T Reddy_2955T Reddy_3412T Reddy_3418T Reddy_3523T Reddy_3535T Reddy_3537T Reddy_3586T Reddy_3608T Reddy_3625T Reddy_3628T Reddy_3646T Reddy_3655T Reddy_3699T Reddy_3711T Reddy_3732T Reddy_3733T Reddy_3755T Reddy_3760T Reddy_3810T Reddy_3832T Reddy_3837T Reddy_3842T Reddy_3845T Reddy_3856T Reddy_3959T Reddy_695T Reddy_800T Reddy_813T Reddy_830T

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-10-10 : Reddy : DLBCL 2018-10-01 : Arthur : DLBCL 2023-11-15 : Gomez : PMBL

References

1.
Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379
2.
Dreval K, Cruz M, Rushton C, Liuta N, Mirhosseini HL, Brown C, Morin RD, Consortium the G. Revisiting Reddy: A DLBCL Do-over [Internet]. 2023 [cited 2024 Jan 24]. p. 2023.11.21.567983. Available from: https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1
3.
Gomez F, Fisk B, McMichael JF, Mosior M, Foltz JA, Skidmore ZL, Duncavage EJ, Miller CA, Abel H, Li YS, Russler-Germain DA, Krysiak K, Watkins MP, Ramirez CA, Schmidt A, Martins Rodrigues F, Trani L, Khanna A, Wagner JA, Fulton RS, Fronick CC, O’Laughlin MD, Schappe T, Cashen AF, Mehta-Shah N, Kahl BS, Walker J, Bartlett NL, Griffith M, Fehniger TA, Griffith OL. Ultra-Deep Sequencing Reveals the Mutational Landscape of Classical Hodgkin Lymphoma. Cancer Res Commun. 2023 Nov 15;3(11):2312–2330. PMCID: PMC10648575
4.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481–494.e15. PMCID: PMC5659841

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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